Nephrocalcinosis and nephrolithiasis (37 genes) - IPG
Full name: |
Nephrocalcinosis and nephrolithiasis (37 genes) - IPG
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Type of panel: | |
Version number: |
V7
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Laboratory: | |
Created: |
11 Dec 2023 - 11:43
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Changed: |
11 Dec 2023 - 11:47
|
Gene | % of coding sequence sufficiently covered to detect heterozygous mutations | Copy number variation | Comments |
---|---|---|---|
ADCY10 | 100.00 | 1 | NM_018417.6 |
AGT | 100.00 | 1 | NM_001384479.1 |
AGXT | 100.00 | 1 | NM_000030.3 |
APRT | 100.00 | 1 | NM_000485.3 |
ATP6V0A4 | 100.00 | 1 | NM_020632.3 |
ATP6V1B1 | 100.00 | 1 | NM_001692.4 |
BSND | 100.00 | 1 | NM_057176.3 |
CA2 | 100.00 | 1 | NM_000067.3 |
CASR | 100.00 | 1 | NM_000388.4 |
CDC73 | 100.00 | 1 | NM_024529.5 |
CLCN5 | 100.00 | 1 | NM_001127898.4 |
CLDN16 | 100.00 | 1 | NM_006580.4 |
CLDN19 | 100.00 | 1 | NM_148960.3 |
CTNS | 100.00 | 1 | NM_004937.3 |
CYP24A1 | 100.00 | 1 | NM_000782.5 |
FAM20A | 100.00 | 1 | NM_017565.4 |
GNA11 | 100.00 | 1 | NM_002067.5 |
GRHPR | 100.00 | 1 | NM_012203.2 |
HNF4A | 100.00 | 1 | NM_175914.5 |
HOGA1 | 100.00 | 1 | NM_138413.4 |
HPRT1 | 100.00 | 1 | NM_000194.3 |
MEN1 | 100.00 | 1 | NM_001370259.2 |
MOCOS | 100.00 | 1 | NM_017947.4 |
NHERF1 | 100.00 | 1 | NM_004252.5 |
OCRL | 100.00 | 1 | NM_000276.4 |
PHEX | 100.00 | 1 | NM_000444.6 |
RRAGD | 100.00 | 1 | NM_021244.5 |
SLC22A12 | 100.00 | 1 | NM_144585.4 |
SLC26A1 | 100.00 | 1 | NM_022042.4 |
SLC2A9 | 100.00 | 1 | NM_020041.3 |
SLC34A1 | 100.00 | 1 | NM_003052.5 |
SLC34A3 | 100.00 | 1 | NM_001177316.2 |
SLC3A1 | 100.00 | 1 | NM_000341.4 |
SLC4A1 | 100.00 | 1 | NM_000342.4 |
SLC7A9 | 100.00 | 1 | NM_014270.5 |
VDR | 100.00 | 1 | NM_000376.3 |
XDH | 100.00 | 1 | NM_000379.4 |